ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Gene geography of pharmacogenetically significant CYP2C19 cytochrome superfamily DNA markers in the populations of Russia and neighboring countries
About authors
1 Research Centre for Medical Genetics, Moscow, Russia
2 Russian Medical Academy of Continuous Professional Education, Moscow, Russia
3 Biobank of North Eurasia, Moscow, Russia
Correspondence should be addressed: Elena V. Balanovska
Moskvorechye, 1, 115522, Moscow, Russia; ur.liam@aksvonalab
About paper
Funding: the study was supported by the Russian Science Foundation grant № 21-14-00363 (bioinformatics, statistical and cartographic analysis), State Assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre for Medical Genetics (genealogical analysis, interpretation of the results).
Acknowledgements: the authors would like to thank all sample donors, who took part in the study, and Biobank of North Eurasia for access to DNA collections.
Author contribution: Balanovska EV — data analysis, manuscript writing, research management; Abdulaev ShP — discriptions of pharmacogenetic markers; Gorin IO — bioinformatics analysis; Belov RO — manuscript formatting; Mukatdarova EA — working with genealogical database; Pylev VYu — statistical analysis, cartographic analysis.
Compliance with ethical standards: the study was approved by the Ethics Commitee of the Research Centre for Medical Genetics (protocol № 1 of 29 June 2020); all subjects submitted the informed consent to study participation.
Received: 2023-09-18
Accepted: 2023-10-18
Published online: 2023-10-31
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Fig. 1. Spatial CYP2C19*1 variability in indigenous population of Russia and neighboring countries. А. Gene geography of CYP2C19*1 SNP variant frequency. B. Gene geography of *1/*1 genotype frequency. C. Gene geography of *1/*2 genotype frequency. D. Gene geography of *1/*3 genotype frequency. E. Gene geography of *1/*17 genotype frequency
Fig. 2. Spatial CYP2C19*2 variability in indigenous population of Russia and neighboring countries. А. Gene geography of CYP2C19*2 SNP variant frequency. B. Gene geography of *2/*2 genotype frequency. C. Gene geography of *2/*1 genotype frequency. D. Gene geography of *2/*3 genotype frequency. E. Gene geography of *2/*17 genotype frequency
Fig. 3. Spatial CYP2C19*3 variability in indigenous population of Russia and neighboring countries. А. Gene geography of CYP2C19*3 SNP variant frequency. B. Gene geography of *3/*3 genotype frequency. C. Gene geography of *3/*1 genotype frequency. D. Gene geography of *3/*2 genotype frequency. E. Gene geography of *3/*17 genotype frequency
Fig. 4. Spatial CYP2C19*17 variability in indigenous population of Russia and neighboring countries. А. Gene geography of CYP2C19*17 SNP variant frequency. B. Gene geography of *17/*17 genotype frequency. C. Gene geography of *17/*1 genotype frequency. D. Gene geography of *17/*2 genotype frequency. E. Gene geography of *17/*3 genotype frequency
Fig. 5. Maps of correlations between patterns of *1, *2, *3, *17 variant frequency variability and gene geography of CYP2C19*3 in indigenous population of the world. А. Spatial CYP2C19*3 variability in indigenous population of the world. B. Correlation map for patterns of *1 and *2 variant frequencies. C. Correlation map for patterns of *1 and *3 variant frequencies. D. Correlation map for patterns of *1 and *17 variant frequencies. E. Correlation map for patterns of *2 and *3 variant frequencies. F. Correlation map for patterns of *2 and *17 variant frequencies. G. Correlation map for patterns of *3 and *17 variant frequencies.
Table 1. Frequencies of CYP2C19*1, *2, *3, 17 SNP variant in indigenous population of Russia and the world
Table 2. Frequencies of CYP2C19 genotypes in indigenous population of Russia and the world
